Mutagenetix > Incidental Mutation

Incidental Mutation 'R8036:Fam20b'

618216

Institutional Source

Beutler Lab

Gene Symbol

Fam20b

Ensembl Gene

ENSMUSG00000033557

Gene Name

FAM20B, glycosaminoglycan xylosylkinase

Synonyms

C530043G21Rik

MMRRC Submission

067473-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8036 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

156506102-156546656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156533407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 70 (W70R)

Ref Sequence

ENSEMBL: ENSMUSP00000083322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086153] [ENSMUST00000122424]

AlphaFold

Q8VCS3

Predicted Effect

probably damaging
Transcript: ENSMUST00000086153
AA Change: W70R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000083322
Gene: ENSMUSG00000033557
AA Change: W70R

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:Fam20C	188	399	3.1e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122424
AA Change: W70R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112534
Gene: ENSMUSG00000033557
AA Change: W70R

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:DUF1193	187	402	2e-95	PFAM

Meta Mutation Damage Score

0.7368

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality associated with decreased embryo size, multisystem organ hypoplasia, and delayed skeleton, digestive system, eye, liver, and lung development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,236,818 (GRCm39)	V1473A	possibly damaging	Het
Akap9	T	A	5: 4,120,397 (GRCm39)	C3604*	probably null	Het
Alas1	A	G	9: 106,112,721 (GRCm39)	I545T	probably benign	Het
Anpep	A	C	7: 79,491,646 (GRCm39)	D118E	probably benign	Het
Arhgef17	A	T	7: 100,579,062 (GRCm39)	S629T	probably damaging	Het
Arid2	C	T	15: 96,266,625 (GRCm39)	R558C	probably damaging	Het
Camk2n1	A	G	4: 138,184,056 (GRCm39)	D65G	probably damaging	Het
Ccdc177	T	C	12: 80,804,897 (GRCm39)	N459S	unknown	Het
Cenpe	ACTCTCT	ACTCT	3: 134,945,609 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,165,122 (GRCm39)	I1062V	probably benign	Het
Decr2	A	G	17: 26,301,962 (GRCm39)	L256P	probably damaging	Het
Dhx37	T	C	5: 125,501,739 (GRCm39)	M507V	probably benign	Het
Disp1	A	G	1: 182,870,803 (GRCm39)	I539T	probably damaging	Het
Dqx1	T	A	6: 83,036,788 (GRCm39)	V264E	probably damaging	Het
Enpp4	A	G	17: 44,413,136 (GRCm39)	S133P	possibly damaging	Het
Fam149a	T	C	8: 45,802,048 (GRCm39)	T476A	probably benign	Het
Fbxl13	T	A	5: 21,728,566 (GRCm39)	N508Y	probably damaging	Het
Fjx1	A	G	2: 102,280,720 (GRCm39)	L405P	probably damaging	Het
Fn1	G	A	1: 71,629,310 (GRCm39)	Q2399*	probably null	Het
Foxa2	G	C	2: 147,885,909 (GRCm39)	T308S	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm10521	A	G	1: 171,723,752 (GRCm39)	D21G	unknown	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Herpud1	A	G	8: 95,119,014 (GRCm39)	E256G	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Kctd13	A	G	7: 126,528,414 (GRCm39)	D63G	possibly damaging	Het
Lamp3	C	A	16: 19,519,809 (GRCm39)	D125Y	probably damaging	Het
Luzp2	A	G	7: 54,724,823 (GRCm39)	D128G	probably damaging	Het
Lyve1	A	G	7: 110,458,649 (GRCm39)	C105R	probably damaging	Het
Mlkl	A	T	8: 112,060,086 (GRCm39)	V100E	probably damaging	Het
Muc5b	T	C	7: 141,421,478 (GRCm39)	S4323P	possibly damaging	Het
Myoz3	T	G	18: 60,713,922 (GRCm39)		probably null	Het
Nlrp9c	T	A	7: 26,070,864 (GRCm39)	N906Y	possibly damaging	Het
Odad1	A	G	7: 45,592,276 (GRCm39)	D352G	probably benign	Het
Or10x4	A	G	1: 174,219,382 (GRCm39)	H249R	probably damaging	Het
Or51f23	A	T	7: 102,452,763 (GRCm39)	H26L	possibly damaging	Het
Or8b49	T	C	9: 38,506,186 (GRCm39)	F223S	probably benign	Het
Or8w1	C	T	2: 87,465,847 (GRCm39)	M81I	probably benign	Het
Pcsk9	G	A	4: 106,311,536 (GRCm39)	H232Y	possibly damaging	Het
Plec	A	G	15: 76,063,380 (GRCm39)	I2230T	possibly damaging	Het
Pou2f3	T	A	9: 43,058,205 (GRCm39)	T47S	probably damaging	Het
Rab8a	A	T	8: 72,928,439 (GRCm39)	I106F	probably damaging	Het
Relch	A	T	1: 105,605,902 (GRCm39)	I181F	probably damaging	Het
Ros1	A	T	10: 52,041,439 (GRCm39)	S295T	probably benign	Het
Sh3yl1	T	A	12: 30,992,098 (GRCm39)	N222K	possibly damaging	Het
Slc6a9	C	T	4: 117,725,083 (GRCm39)	A559V	possibly damaging	Het
Spata20	T	G	11: 94,369,963 (GRCm39)	I778L	probably benign	Het
Taar1	A	T	10: 23,797,033 (GRCm39)	T244S	probably benign	Het
Tmem229b	C	A	12: 79,011,862 (GRCm39)	C23F	probably damaging	Het
Ttll4	A	G	1: 74,718,389 (GRCm39)	Y80C	probably benign	Het
Ube2m	G	A	7: 12,769,566 (GRCm39)	T176I	probably benign	Het
Zfp790	G	A	7: 29,528,346 (GRCm39)	A344T	possibly damaging	Het
Zfp90	G	A	8: 107,145,760 (GRCm39)	V31M	probably benign	Het
Zswim4	C	T	8: 84,949,918 (GRCm39)	R659Q	probably benign	Het

Other mutations in Fam20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Fam20b	APN	1	156,530,035 (GRCm39)	missense	probably benign	0.13
Cancelled	UTSW	1	156,533,407 (GRCm39)	missense	probably damaging	1.00
consequences	UTSW	1	156,518,123 (GRCm39)	missense	probably damaging	1.00
delisted	UTSW	1	156,518,215 (GRCm39)	missense	probably benign	0.18
Head_over_heels	UTSW	1	156,518,140 (GRCm39)	missense	probably damaging	1.00
minuscule	UTSW	1	156,533,310 (GRCm39)	missense	probably damaging	1.00
squirt	UTSW	1	156,533,299 (GRCm39)	missense	probably damaging	1.00
R0105:Fam20b	UTSW	1	156,518,140 (GRCm39)	missense	probably damaging	1.00
R0105:Fam20b	UTSW	1	156,518,140 (GRCm39)	missense	probably damaging	1.00
R0389:Fam20b	UTSW	1	156,509,023 (GRCm39)	missense	probably benign	0.00
R0443:Fam20b	UTSW	1	156,509,023 (GRCm39)	missense	probably benign	0.00
R0518:Fam20b	UTSW	1	156,515,026 (GRCm39)	missense	possibly damaging	0.70
R1466:Fam20b	UTSW	1	156,513,758 (GRCm39)	splice site	probably benign
R1584:Fam20b	UTSW	1	156,513,758 (GRCm39)	splice site	probably benign
R2014:Fam20b	UTSW	1	156,533,511 (GRCm39)	missense	possibly damaging	0.92
R4085:Fam20b	UTSW	1	156,533,445 (GRCm39)	missense	probably benign	0.01
R4755:Fam20b	UTSW	1	156,515,066 (GRCm39)	nonsense	probably null
R5254:Fam20b	UTSW	1	156,533,310 (GRCm39)	missense	probably damaging	1.00
R5471:Fam20b	UTSW	1	156,533,299 (GRCm39)	missense	probably damaging	1.00
R6886:Fam20b	UTSW	1	156,518,081 (GRCm39)	missense	probably damaging	1.00
R6944:Fam20b	UTSW	1	156,515,091 (GRCm39)	missense	probably benign	0.02
R7013:Fam20b	UTSW	1	156,518,135 (GRCm39)	missense	probably damaging	1.00
R7205:Fam20b	UTSW	1	156,529,968 (GRCm39)	critical splice donor site	probably null
R7215:Fam20b	UTSW	1	156,518,123 (GRCm39)	missense	probably damaging	1.00
R7286:Fam20b	UTSW	1	156,509,012 (GRCm39)	missense	probably benign	0.28
R7684:Fam20b	UTSW	1	156,518,215 (GRCm39)	missense	probably benign	0.18
R8119:Fam20b	UTSW	1	156,518,072 (GRCm39)	missense	probably damaging	1.00
R9231:Fam20b	UTSW	1	156,509,084 (GRCm39)	missense	probably benign	0.40
R9562:Fam20b	UTSW	1	156,530,010 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GATGAAGACTCACCGCTTAGGC -3'
(R):5'- AAGAGGCCACCATGAAGCTG -3'

Sequencing Primer
(F):5'- TGAAGACTCACCGCTTAGGCTTAAAG -3'
(R):5'- CTGAAGCAGCGAGTTGTGC -3'

Posted On

2020-01-23